Basic Information

Symbol
TFAP2A
RNA class
mRNA
Alias
Transcription Factor AP-2 Alpha AP-2 AP-2alpha AP2TF TFAP2 Transcription Factor AP-2 Alpha (Activating Enhancer Binding Protein 2 Alpha) Activating Enhancer-Binding Protein 2-Alpha Transcription Factor AP-2-Alpha AP-2 Transcription Factor Activator Protein 2 Transcription Factor AP-2 Alpha (Activating Enhancer-Binding Protein 2 Alpha) AP2-Alpha BOFS
Location (GRCh38)
6:10393186-10419659
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001372066.1
Sequence length
3143.0 nt
GC content
0.4773

Transcripts

ID Sequence Length GC content
NM_001032280.3 NCBI
ACACUUUCUUUCUCACACACGCACGCAGACACAUUCUCCCUCUCUGCGC… 3831 nt 0.4944
NM_001042425.3 NCBI
GUGCGGCGCUGGGACUGCAGCUGGCGGAGUGAAUUCCUGGGCCAGCGCG… 3251 nt 0.4860
NM_001372066.1 NCBI
GGCAGCCAGCACUUUGCGCUCACCCAGAGAGUAGCUCCACUUGGGUGCG… 3143 nt 0.4773
Summary

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

Forensic Context

No relevant information is available at the moment.